And school begins…

Posted by Kat in Julie, Life, London, Rachel, School

Rachel is in 5th, Julie is in 2nd and London is in Kindergarten!!!!!!

Today is a great day!

Posted by Kat in Batten Disease, Birthday, Fundraiser, Halloween, Julie, Kat, Life, London, Rachel

Today is my 33rd birthday so I imagine my Mom is once again thrilled that she is no longer pregnant with me (I am mostly joking lol).  I was born over 3 weeks late and weighed over 10 pounds so I really can’t blame her.  Thank  you Mom, aka Eileen, for giving me life and putting up with my crap, foul language and obnoxiousness all of these years.  :)

I also want to thank my Mom for being the first to sign-up for Rachel’s road race which is in 2 months.  I can’t say I was outright nervous that no one had signed up because I know people are really busy with “back to school” whether it is their child or grandchild headed back in the next few weeks.  I guess my Mom had mental telepathy and for that I am so grateful.  We have one official walker!!!!

This week I am finalizing the Sponsor information for businesses who can give over and beyond the registration fee as well as walkers and runners who will ask their friends to donate on their behalf.  Plus the prizes and raffle items.  I have never done this before and got some really great ideas at the Batten Disease Golf Tournament I took John and the girls to yesterday.  They raised about $30,000!!!!  My goal is to raise $10,000 this year for our walk/run/raffle.

Have a great day today if you read this entry!!!

Photo: Rachel (6), Kat (?) and Julie (2.5).  Not really easily seen is London who was 8 days past his due date and born the next day.  We were at a pumpkin patch in Colorado.

Xanax?

Posted by Kat in Batten Disease, Boston, Julie, London, Medical, Rachel

Taking Rachel into her Primary Care doctor this morning to talk about Xanax as a possible med to help Rachel with her anxiety and obsessive thoughts. Something to help her like Risperdal did but without the weight gain (WOW!).

This weekend I think we should take the kids to the beach. We live a block away from it but we never go because I hate the texture of the sand. Most people avoid swimming situations because they don’t like the way they look in a swim suit but frankly I don’t care about that. Its the sand that keeps me away.

12 more days unti school starts for Rachel and Julie!!!! 13 days for London and and 20 for Boston. London should get “THE” letter in the mail this week to let him know who he has for his Kindergarten teacher. So exciting!

Picture:  This was taken earlier in the summer when the pool looked like pea soup.  Nothing can keep Juliebean out of the water.

Meet London Jack

Posted by Kat in Life, London

He is nearly 6 and about to start Kindergarten. He is really excited!

Nearly 2 years

Posted by Kat in Batten Disease, Boston, John, Julie, Kat, Life, London, Rachel

Tomorrow marks the 2 anniversary of Rachel being officially diagnosed.  Its been a hard 2 years but I’ve worked my ass off to make it as fun and as successful as this time could possibly be.  There are huge marks of decline in her but at the same time we can’t ignore her infectious laugh, her record setting appetite, her love for her Granny and dozens of other things that prove she has a good quality to her life.  That is all that this is about now: Quality of Life.

I have this ridiculously high in calorie cake that I plan to make tomorrow to mark the occasion.  (Chocolate Snowball Cake).  If I die from clogging my arteries with this delicious cake please note that I died happy. 

Here is a picture I took of  my A-Team last week which visiting our new shop in Weymouth (they never look at the camera at the same time, lol):

Rachel, Julie, London and Boston (July 2011)

This is a picture of the wonderful person (Sue) who took my husband and kids out on her boat last week.  We went to fascination and she won a WHEEL SPIN!!!  She might kill me for putting this picture on the blog but I wanted to give her an honorable mention because there are very few people in the world who are so giving and I really appreciate her in our lives.

Sue at Fascination

I took Rachel and the kids to the Hull Fire Station for their safety day.   Her siblings climbed up onto the Jetski (on trailer) and where they go, Rachel has to go  (my rule lol) so I heaved her up:

Rachel on the Hull Fire Jet Ski

Have a good day if you are reading this.  I’ll post another entry with more pictures tomorrow.

4/1/2011

Posted by Kat in Boston, John, Julie, Kat, Life, London, Rachel

Nothing too special to write today. I’ve promised John not to “get him” on April Fools Day today. Last year I had him believing the trash company wrote us a nasty letter and fired us because of the volume of our weekly garbage output. He was fuming and about to call the trash company and then I said to him “April Fools.” I’m not sure he has forgiven me for that. LOL

I started going back to the gym and have done a few Yoga classes (free child care, woohoo!) and its good to work out again but the kid free time is priceless.

Rachel and Julie have a father-daughter dance tonight for girl scouts, and Julie and London have Art class after school. I have a 10am yoga class today (the boys are going to childcare at the Gym) and all I want to do is stay home and watch the drizzle from my couch with a cup of coffee in hand.

What do people live for?

Posted by Kat in Boston, Bucket List, John, Julie, Kat, Life, London, Rachel

I took Rachel to her second appointment with her Pediatric Rheumatologist and he confirmed that she does have Lupus, also known as Systemic Lupus Erthymisomethingerother. How does a beautiful and innocent kid end up getting an early death sentence and Lupus? It’s total bullshit and rather than be angry this fine evening I would like to pose a question to those folks that still read my infrequently updated blog.

What do you live for?

Last year I spent many weeks living to cross off items on the bucket list, taking my kids to multiple states and experiencing all sorts of awesome things. Already this year I have driven my kids down to Florida and back and watched the miracle of Rachel and London learn how to swim. I have personally been living to make sure Rachel, Julie, London and Boston get to experience countless amazing days while Rachel can.

This year I want to continue this mission but maybe travel a little less (my new Jeep is not so good with gas mileage). Planning on sharpening our camping skills, maybe get a little sailboat. I’m looking for more adventuring ideas, things to enjoy, experience, to LIVE for.

So… What do you live for?

Took this picture of Rachel today. We clocked 100 miles with the Jeep’s top down today. It was 65 degrees in Massachusetts today!

My “old dog” learned a new party trick

Posted by Kat in Batten Disease, Julie, London, Rachel, Vacation

When I took the kids down to Florida last month they had unlimited access to a swimming pool. During that time Julie reproved that she is a great swimmer, London learned how to swim and dive (!) and Rachel “let go” and learned how to swim! Here is a video of Rachel swimming!

Excuse the weird formatting, I took the video with my phone.

January

Posted by Kat in Batten Disease, Blog, Bucket List, Julie, Kat, Life, London, Medical, Memories, Rachel

Can’t believe it is January already. Julie started back to school a few weeks ago and is enjoying her social time, she is pretty overwhelmed with all of the stimulation but loves it overall. London is starting preschool next week in the afternoons and they are all going to Art Class again starting later this week. Rachel was kind of upset about not going but I said she could bring some art supplies to Granny’s house as she’ll be at my Mom’s for her regular Friday night “date.”

Rachel is about 95% blind. The other five includes a spec of vision (literally a spec) out of the corner of at least one eye and she still has “light / dark perception.” She is handling it as well as can be expected. I try to get her to talk about it and how she feels and if she has any questions about her blindness and for the most part she is as happy as can be expected (and then some). She and I are going to the University of Rochester next week for a “check in” to see how she is progressing as they are studying Juvenile Batten Disease. My fingers are crossed that her disease progression is considered slow for her age.

The day after we get back from NY I am driving down the kids to Florida to stay the week in a house I booked months ago with a heated pool in the back porch. One day at Disney (can’t believe how expensive it is) and another day at a petting zoo. Our Make a Wish trip was amazing yet difficult for Rachel (and us) because she wasn’t on the right medication and it was so hot. My brother, nephews and my other brother and his girlfriend (Andrea) are all planning on coming down during the week.

Get out your fine china (I am so not fancy enough to ever own any). Wear your best jewelry (I made Julie wear her new princess earrings today despite her fear she might lose them) and treat this day like its your last on earth. Some days are harder than others but you should try every single day.

Had a complaint

Posted by Kat in Batten Disease, Blog, Boston, Fundraising, Halloween, London, Rachel

From a dear friend who, if  possible, Rachel would steal this friend’s husband and marry him one day. 

The complaint is that the website background is (well, was) too grown-up and “isn’t this a website to represent a child?”.  This friend is right… so I’ve decided to keep the website theme in tune with upcoming Holidays and Seasons.  So if you hate the new Halloween theme you’ll only have to stick with it for a week and then we’ll be onto  Thanksgiving.

The picture in this entry was taken of Rachel with her brothers about a year ago.

To everyone offering to help with the 5k, thank you so much!  I will definitely be calling on all of you to help and I really appreciate the offers!!!!!!

Thinking of dropping the candle prices to $10 as a few people gasped at the price.  I’d rather sell more and raise more research money than hold my head high and refuse to bend.  What do you think?  Is $10 a better price?

The First Post

Posted by Kat in Batten Disease, Blog, Boston, Fundraising, Julie, London, Rachel

I’ve stayed up until nearly 2am to put this blog together and make it look good enough to put Rachel’s name on it.  It’s kind of hard for me to stay on top of everything when the children are awake, especially when Rach is home.

Not everyone who will read this knows about us so I’ll quickly explain that we are a family of 6 that lives in the Boston suburbs with 4 great kids.  Rachel is 10 and has (suffers from (I hate that term))  Juvenile Batten Disease which is very rare and you can either read more about it here or go directly to www.bdsra.org and the Batten Disease Support & Research Association will be able to educate you better than I can.  Our other children are Julie (6), London (5) and Boston (4) and they are truly the best kids (wish the food bill were a little cheaper but other than that… lol).

In the last year I (Rachel’s Mom) have been working on getting Rachel’s educational and medical needs met and more recently have done some fund-raising work.  We hosted a Lemonade stand on the fourth of July, had a table at Endless Summer and have started selling candles at Batten Candles.  The next major fund-raiser we are working on is a 5k Race / Walk in our beautiful seaside Hull, Massachusetts town (May 2011).

If you have any fund-raising ideas for Batten Disease Research, please contact us (and thank you)!

Happy 5th Birthday, London

Posted by Kat in Birthday, London

My little introvert who reminds me of his Daddy. You have curls most women (including your mother) would pay good money for. We love you and won’t give up on making you play outside. You’ll probably end up owning a large software development firm and will create and indoor “outside.” Love you so much and anytime you want cookies just call me up and I’ll ship ‘em.

London Jack opening his new sheets (his request) with Saylor Moon looking on. They'd make some cute kids in about 20 years...

Wednesday

Posted by Kat in Batten, Boston, Julie, Kat, London, Rachel, Summer

I’ve spent the last few days writing a “paper” of sorts for my Biology Class. We had to select three diseases of the organelles and discuss the cause, symptoms and treatment for each. I selected Batten Disease (Disease of the Lysosome), Diamond-Blackfan Anemia (Disease of the Ribosome) and Leigh Disease (Disease of the Mitochondria).

It absolutely kills me that so few people have heard of any of these, know nothing about all of the rare diseases out there. If we don’t have awareness, we won’t be able to cure any of them. As selfish as I know it is, my disease of choice is Juvenile Batten Disease because my daughter suffers from it. I want to do so much for this disease but I just don’t know where to start. The science behind it is extremely interesting to me but it will take me years of school to be in a professional position to do any research. I have this child 3 feet from me listening to Star Wars Clone Wars and I need to do something to help her.

Here are some pictures from yesterday. The last picture is historical proof that my Mom (in her late sixties) will still climb into a gokart.

The Bucket List

Posted by Kat in Batten, Bucket List, Colorado, Julie, Kat, Life, London, Maine, Rachel

So if you follow Rachel’s facebook page or know me “in real life” you’ll probably know that the idea of a Bucket List has been the topic of several conversations between me and the kiddos. They don’t understand that this has ANYTHING to do with death so please don’t comment or email me worried that I have a doom and gloom attitude that is negatively affecting them. My positivity is borderline disgusting. LOL

I’ve put “The Bucket List” on the top right of the blog and plan to add many, many more things to the list as the weeks go by. The plan is to take a very long (nearly) cross country trip stretching from Boston up north to Maine and all the way West to Kansas City then Colorado and back. We have free access to several amusement parks through September and I’d like to take advantage of this gift from “Give Kids the World” (the place we stayed in Florida on our Make A Wish trip).

I’m also setting up a FLICKR account to link our pictures from all of these successful missions to show the world that life is too short to wait on the important things in life. Life is too short, people. It’s a fact. Batten Disease is such a shit disease, I refuse to let it steal my Rachel until she has had the chance to use up her body and slides into home base covered in fattening food and exhausted from life.

The more afternoons I can get my children sticky with ice cream this summer, the better! I’ll leave you with a picture from Summer 2009 (the extra 9 year old boy in the picture is my nephew Ryan).

You keep that thumb in the up position, baby. Hold on tight because I’m going to drag you all over this country!!!

For the unaware, “The Bucket List” was a movie that came out in 2007. < link to IMDB>

Trip to Maine

Posted by Kat in Batten, Boston, Bucket List, John, Julie, Kat, Life, London, Maine, Pictures, Rachel, Vacation

I scooped John and the kids up and took them to Maine for the weekend. We had a great time although I had promised to tray and do some sledding or snow tubing. We met a family of chickens and a herd of alpacas, went swimming and hot tubbing and took the kiddos into a sauna for the first time. We even brought home 3 dozen farm fresh eggs which have already begun the transformation into baked goods.

Here are some of the pictures which I will directly share from facebook (you don’t need a facebook account to see ‘em).

http://www.facebook.com/album.php?aid=374918&id=266424125552

We had THE BEST time! Here is my favorite picture of Rachel from the weekend. Just goes to show that you don’t have to see well to have a fun and full life. Experiences like this are more valuable to Rachel than to a sighted child because of her tactile senses.

I think I think I did a sufficient job at flipping Batten Disease off this weekend. Tomorrow morning we’re going ice skating for an hour. Can’t wait! Gotta get them into a swimming pool more often. They love the water (just like their Momma) and love the hottub (just like their Daddy).